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'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

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KCNH1 mutations have recently been described in six individuals with Temple-Baraitser syndrome (TMBTS) and six individuals with Zimmermann-Laband syndrome (ZLS). TMBTS is characterized by intellectual disability (ID), epilepsy, dysmorphic facial features, broad thumbs and great toes with

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

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Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding heterooctameric ATP-sensitive potassium

Sweet's syndrome from an Indian perspective: a report of four cases and review of the literature.

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BACKGROUND Sweet's syndrome or acute febrile neutrophilic dermatosis is not frequently reported from India. Four patients fulfilling clinico-pathologic criteria for Sweet's syndrome seen during May-August 2002 prompted us to review reports on Indian patients from the indexed literature. METHODS A

Cyclosporine level at the second hour in pediatric hematopoietic stem cell transplant patients.

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In this retrospective study, cyclosporine levels at the second hour (C2 levels) were measured during oral cyclosporine intake in 28 pediatric hematopoietic stem cell transplant patients, and the relations between cyclosporine dosage and C0, C2 levels, C2/C0 ratio, and cyclosporine-related adverse

[Controlled clinical study of Consupren versus cyclophosphamide in chronic glomerulonephritis. II. Adverse effects].

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BACKGROUND The second part of the study was designed to assess Consupren side effects. RESULTS The groups of patients studied were described in Part I. Side affects typical of Cy-A were evaluated only in the CS group. Gastrointestinal intolerance, only mild and temporary, was observed in 31%,

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

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Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

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Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K⁺ channels, have been

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Herbal & Natural Medicine

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